Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2
Open Access
- 29 October 2014
- journal article
- research article
- Published by Oxford University Press (OUP) in JNCI: Journal of the National Cancer Institute
- Vol. 107 (1) , dju420
Abstract
Mutations in BRCA1 and BRCA2 were first discovered in the mid-1990s in families with multiple cases of breast and ovarian cancer and remain the major cause of inherited susceptibility to these malignancies ( 1 ). At first, testing for mutations in these genes was limited to women with cancer diagnosis at a young age or with a substantial family history, bilateral breast cancer, or both breast and ovarian cancer ( 2 ). Mounting evidence that BRCA1 and BRCA2 mutations account for a substantial proportion of breast and ovarian cancer ( 3 , 4 ), combined with emerging therapies based on BRCA1 or BRCA2 genotype ( 5 ), led to expansion of referral criteria to include many women with breast or ovarian cancer upon diagnosis ( 6 ).Keywords
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